Genetic tests

Full name Analytes Gene panels Disease Laboratory
Bile Acid Synthesis Congenital Defect (gene panel) AKR1D1, AMACR, CYP7B1, HSD3B7, CYP27A1 Bile Acid Synthesis Congenital Defect (5 genes) - UCL Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Cerebrotendinous xanthomatosis, Congenital bile acid synthesis defect type 3, Congenital bile acid synthesis defect type 1 Centre de Génétique Médicale UCL
Hearing loss, STRC gene STRC Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centrum Medische Genetica - UZ Antwerpen
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes) GJB2, GJB6 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal recessive 1A GJB2 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes) GJB2, GJB6, STRC, OTOA Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - Erasme ULB
Recessive nonsyndromic hearing loss and deafness (2 genes) GJB2, GJB6 Non syndromic hearing loss and deafness (2 genes) - IPG - ULG Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - CHU Sart-Tilman
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Menselijke Erfelijkheid - KUL
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique Humaine - CHU Sart-Tilman
Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome) mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, Autosomal dominant progressive external ophthalmoplegia, Autosomal recessive progressive external ophthalmoplegia, Isolated cytochrome C oxidase deficiency, Maternally-inherited diabetes and deafness, Kearns-Sayre syndrome, Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy, Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, Mitochondrial DNA depletion syndrome, hepatocerebrorenal form, Proximal myopathy with focal depletion of mitochondria, Pearson syndrome Centrum Medische Genetica - UZ Brussel VUB
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